Fibrosis of Extraocular Muscles, CFEOM5
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References
Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am J Hum Genet. 2015 Jan 8;96(1):147-52.
PubMedID: 25500261